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Research project

Genetic causes of Disorders of Sex Development

Status: ongoing

Many genes may underlie disorders of sex development (DSD). A genetic cause is not yet known for the larger part of patients with a 46,XY DSD.

What we do

About our project

A genetic diagnosis is important to decide on a patient’s optimal follow up and treatment, family planning and identifying other affected family members.

What is the aim?

By applying next generation sequencing in a panel of genes involved in the development and function of the urogenital system, we aim to diagnose 25-50% of patients.

How will you perform this research?

We will perform whole exome sequencing in a panel of genes involved in DSD, and which panel is updated twice a year. The full exome will be analyzed if parents/patients opt for it. Functional studies of variants of unknown significance will be undertaken both in our own lab and in collaboration with other centers in the Netherlands and abroad.

What is the desirable outcome?

The desirable outcome is better information with which to counsel patients and families about the condition and its heritability.

Our team

  • Yolande van Bever, clinical geneticist
  • Hennie Bruggenwirth, clinical genetic laboratory specialist
  • Fran Verheyen, clinical genetic laboratory specialist

Any questions?

Please contact our office if you have any questions or comments.

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